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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:stromal dystrophy
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Accession:DOID:0060442 term browser browse the term
Definition:A corneal dystrophy that affects the corneal stroma. (DO)
Synonyms:primary_id: RDO:9004324


show annotations for term's descendants           Sort by:
congenital stromal corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcn decorin ISO
ISS		 OMIM:610048
ClinVar Annotator: match by term: Congenital stromal corneal dystrophy
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:5304426 PMID:11805522 PMID:15671264 PMID:16935612 PMID:21993463 More... NCBI chr 7:32,281,252...32,321,291
Ensembl chr 7:32,281,252...32,321,270 		JBrowse link
Fleck corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CORNEAL DYSTROPHY, FRANCOIS-NEETENS SPECKLED OR FLECKED | ClinVar Annotator: match by term: Fleck corneal dystrophy		 OMIM
CTD
ClinVar		 PMID:15902656 PMID:18558518 PMID:23288988 PMID:25741868 PMID:26396486 More... NCBI chr 9:66,563,747...66,657,873
Ensembl chr 9:66,563,727...66,657,868 		JBrowse link
macular corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcar1 BCAR1 scaffold protein, Cas family member ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:39,679,215...39,713,907
Ensembl chr19:39,679,204...39,713,907 		JBrowse link
G Cfdp1 craniofacial development protein 1 ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:39,718,313...39,823,824
Ensembl chr19:39,718,347...39,823,824 		JBrowse link
G Chst5 carbohydrate sulfotransferase 5 ISO ClinVar Annotator: match by term: Macular corneal dystrophy | ClinVar Annotator: match by term: Macular corneal dystrophy, type II
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11017086 PMID:11278593 PMID:11818380 PMID:12824236 PMID:12882769 More... NCBI chr19:39,860,729...39,881,019
Ensembl chr19:39,860,501...39,881,064 		JBrowse link
G Ctrb1 chymotrypsinogen B1 ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:39,652,931...39,657,689
Ensembl chr19:39,652,933...39,657,688 		JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153 		JBrowse link
G Ldhd lactate dehydrogenase D ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:39,583,529...39,588,397
Ensembl chr19:39,573,621...39,595,575 		JBrowse link
G Tmem170a transmembrane protein 170A ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:39,833,947...39,846,807
Ensembl chr19:39,833,980...39,846,783 		JBrowse link
G Wdr59 WD repeat domain 59 ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:39,416,432...39,483,773
Ensembl chr19:39,416,429...39,483,698 		JBrowse link
G Zfp1 zinc finger protein 1 ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:39,599,497...39,633,490
Ensembl chr19:39,599,954...39,632,995 		JBrowse link
G Znrf1 zinc and ring finger 1 ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chr19:39,496,414...39,581,600
Ensembl chr19:39,496,527...39,580,969 		JBrowse link
Schnyder corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubiad1 UbiA prenyltransferase domain containing 1 ISO
ISS		 OMIM:121800
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Schnyder corneal dystrophy | ClinVar Annotator: match by term: Schnyder crystalline corneal dystrophy		 OMIM
MouseDO
CTD
ClinVar		 PMID:3486394 PMID:8190477 PMID:9450854 PMID:15034782 PMID:17668063 More... NCBI chr 5:158,856,582...158,880,490
Ensembl chr 5:158,868,672...158,880,271 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      eye disease 3492
        corneal disease 235
          corneal dystrophy 52
            stromal dystrophy 13
              Central Cloudy Dystrophy of Francois 0
              Fleck corneal dystrophy 1
              Schnyder corneal dystrophy 1
              congenital stromal corneal dystrophy 1
              macular corneal dystrophy 10
              posterior amorphous corneal dystrophy 0
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            eye disease 3492
              Hereditary Eye Diseases 1101
                corneal dystrophy 52
                  stromal dystrophy 13
                    Central Cloudy Dystrophy of Francois 0
                    Fleck corneal dystrophy 1
                    Schnyder corneal dystrophy 1
                    congenital stromal corneal dystrophy 1
                    macular corneal dystrophy 10
                    posterior amorphous corneal dystrophy 0
paths to the root